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Aliases for LHFPL5 Gene

Aliases for LHFPL5 Gene

  • Lipoma HMGIC Fusion Partner-Like 5 2 3 5
  • Lipoma HMGIC Fusion Partner-Like 5 Protein 3 4
  • TMHS 3 4
  • Deafness, Autosomal Recessive 67 2
  • LHFP-Like Protein 5 3
  • DJ510O8.8 3
  • DFNB67 3

External Ids for LHFPL5 Gene

Previous HGNC Symbols for LHFPL5 Gene

  • DFNB67

Previous GeneCards Identifiers for LHFPL5 Gene

  • GC00U914202
  • GC06U900648
  • GC06P035882
  • GC06P035773
  • GC06P035491
  • GC06P036825
  • GC06P036848

Summaries for LHFPL5 Gene

Entrez Gene Summary for LHFPL5 Gene

  • This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for LHFPL5 Gene

LHFPL5 (Lipoma HMGIC Fusion Partner-Like 5) is a Protein Coding gene. Diseases associated with LHFPL5 include Deafness, Autosomal Recessive 67 and Dfnb67 Nonsyndromic Hearing Loss And Deafness. An important paralog of this gene is LHFPL3.

UniProtKB/Swiss-Prot for LHFPL5 Gene

  • In the inner ear, may be a component of the hair cells mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHFPL5 Gene

Genomics for LHFPL5 Gene

Regulatory Elements for LHFPL5 Gene

Enhancers for LHFPL5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LHFPL5 on UCSC Golden Path with GeneCards custom track

Genomic Location for LHFPL5 Gene

Chromosome:
6
Start:
35,797,420 bp from pter
End:
35,833,874 bp from pter
Size:
36,455 bases
Orientation:
Plus strand

Genomic View for LHFPL5 Gene

Genes around LHFPL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHFPL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHFPL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHFPL5 Gene

Proteins for LHFPL5 Gene

  • Protein details for LHFPL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAF8-TMHS_HUMAN
    Recommended name:
    Tetraspan membrane protein of hair cell stereocilia
    Protein Accession:
    Q8TAF8
    Secondary Accessions:
    • B3KX66

    Protein attributes for LHFPL5 Gene

    Size:
    219 amino acids
    Molecular mass:
    24201 Da
    Quaternary structure:
    • Interacts with PCDH15; this interaction is required for efficient localization to hair bundles.

neXtProt entry for LHFPL5 Gene

Proteomics data for LHFPL5 Gene at MOPED

Post-translational modifications for LHFPL5 Gene

No Post-translational modifications

Other Protein References for LHFPL5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHFPL5 Gene

Domains & Families for LHFPL5 Gene

Protein Domains for LHFPL5 Gene

Suggested Antigen Peptide Sequences for LHFPL5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAF8

UniProtKB/Swiss-Prot:

TMHS_HUMAN :
  • Belongs to the LHFP family.
Family:
  • Belongs to the LHFP family.
genes like me logo Genes that share domains with LHFPL5: view

No data available for Gene Families for LHFPL5 Gene

Function for LHFPL5 Gene

Molecular function for LHFPL5 Gene

UniProtKB/Swiss-Prot Function:
In the inner ear, may be a component of the hair cells mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity).
genes like me logo Genes that share phenotypes with LHFPL5: view

Human Phenotype Ontology for LHFPL5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LHFPL5 Gene

MGI Knock Outs for LHFPL5:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for LHFPL5 Gene

Localization for LHFPL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHFPL5 Gene

Cell membrane; Multi-pass membrane protein. Note=Efficient localization to the plasma membrane requires the presence of PCDH15. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LHFPL5 Gene COMPARTMENTS Subcellular localization image for LHFPL5 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LHFPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032421 stereocilium bundle IEA --
GO:0032426 stereocilium tip IEA --
genes like me logo Genes that share ontologies with LHFPL5: view

Pathways & Interactions for LHFPL5 Gene

SuperPathways for LHFPL5 Gene

No Data Available

Interacting Proteins for LHFPL5 Gene

Gene Ontology (GO) - Biological Process for LHFPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with LHFPL5: view

No data available for Pathways by source and SIGNOR curated interactions for LHFPL5 Gene

Drugs & Compounds for LHFPL5 Gene

No Compound Related Data Available

Transcripts for LHFPL5 Gene

mRNA/cDNA for LHFPL5 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LHFPL5 Gene

Lipoma HMGIC fusion partner-like 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LHFPL5 Gene

No ASD Table

Relevant External Links for LHFPL5 Gene

GeneLoc Exon Structure for
LHFPL5
ECgene alternative splicing isoforms for
LHFPL5

Expression for LHFPL5 Gene

mRNA expression in normal human tissues for LHFPL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LHFPL5 Gene

This gene is overexpressed in Pancreas (x17.5), Brain - Anterior cingulate cortex (BA24) (x5.9), Brain - Cortex (x5.1), and Brain - Frontal Cortex (BA9) (x5.0).

SOURCE GeneReport for Unigene cluster for LHFPL5 Gene Hs.367947

genes like me logo Genes that share expression patterns with LHFPL5: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LHFPL5 Gene

Orthologs for LHFPL5 Gene

This gene was present in the common ancestor of animals.

Orthologs for LHFPL5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LHFPL5 35
  • 91.02 (n)
  • 98.63 (a)
LHFPL5 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LHFPL5 35
  • 91.78 (n)
  • 98.17 (a)
LHFPL5 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lhfpl5 35
  • 89.5 (n)
  • 98.17 (a)
Lhfpl5 16
Lhfpl5 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lhfpl5 35
  • 88.43 (n)
  • 98.17 (a)
oppossum
(Monodelphis domestica)
Mammalia LHFPL5 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LHFPL5 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LHFPL5 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves LHFPL5 35
  • 77.52 (n)
  • 75.69 (a)
LHFPL5 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LHFPL5 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lhfpl5 35
  • 70.24 (n)
  • 74.01 (a)
zebrafish
(Danio rerio)
Actinopterygii lhfpl5a 35
  • 74.16 (n)
  • 70.18 (a)
lhfpl5a 36
  • 64 (a)
OneToMany
lhfpl5b 36
  • 65 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6230 35
fruit fly
(Drosophila melanogaster)
Insecta Tmhs 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F26D10.11 35
  • 43.21 (n)
  • 34.39 (a)
F26D10.11 36
  • 28 (a)
OneToMany
Species with no ortholog for LHFPL5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LHFPL5 Gene

ENSEMBL:
Gene Tree for LHFPL5 (if available)
TreeFam:
Gene Tree for LHFPL5 (if available)

Paralogs for LHFPL5 Gene

Paralogs for LHFPL5 Gene

(2) SIMAP similar genes for LHFPL5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LHFPL5: view

Variants for LHFPL5 Gene

Sequence variations from dbSNP and Humsavar for LHFPL5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_032055 Deafness, autosomal recessive, 67 (DFNB67)
VAR_032056 Deafness, autosomal recessive, 67 (DFNB67)
VAR_032057 Deafness, autosomal recessive, 67 (DFNB67)
rs5875523 -- 35,819,683(+) GTGTC(-/T)TTTTT intron-variant
rs6457857 -- 35,809,572(+) gaaca(C/T)acctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LHFPL5 Gene

Variant ID Type Subtype PubMed ID
dgv1940e1 CNV Complex 17122850
nsv821646 CNV Loss 15273396
dgv6834n71 CNV Gain 21882294
dgv1941e1 CNV Complex 17122850
nsv428143 CNV Gain 18775914
nsv885805 CNV Loss 21882294
nsv5259 CNV Insertion 18451855
nsv511122 CNV Complex 20534489
esv2731914 CNV Deletion 23290073

Variation tolerance for LHFPL5 Gene

Residual Variation Intolerance Score: 54.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LHFPL5 Gene

Human Gene Mutation Database (HGMD)
LHFPL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHFPL5 Gene

Disorders for LHFPL5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for LHFPL5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 67
  • deafness, autosomal recessive, 67
dfnb67 nonsyndromic hearing loss and deafness
  • dfnb 63 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
lipoma
  • benign lipomatous tumor
hearing loss/deafness
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMHS_HUMAN
  • Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:16459341, ECO:0000269 PubMed:16752389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LHFPL5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHFPL5
genes like me logo Genes that share disorders with LHFPL5: view

No data available for Genatlas for LHFPL5 Gene

Publications for LHFPL5 Gene

  1. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. (PMID: 16459341) Shabbir M.I. … Riazuddin S. (J. Med. Genet. 2006) 2 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. (PMID: 21816241) BensaA^d M. … Masmoudi S. (Eur J Med Genet 2011) 3
  4. Unique transgenic animal model for hereditary hearing loss. (PMID: 19102128) Cosetti M. … Hannan F. (Ann. Otol. Rhinol. Laryngol. 2008) 3
  5. Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation. (PMID: 16395596) Mansouri M.R. … Dahl N. (Hum. Genet. 2006) 23

Products for LHFPL5 Gene

Sources for LHFPL5 Gene

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